Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Fndc3b'

560749

Institutional Source

Beutler Lab

Gene Symbol

Fndc3b

Ensembl Gene

ENSMUSG00000039286

Gene Name

fibronectin type III domain containing 3B

Synonyms

1600019O04Rik, fad104

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27470311-27765456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27510634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 829 (D829E)

Ref Sequence

ENSEMBL: ENSMUSP00000041495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046157] [ENSMUST00000195008]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046157
AA Change: D829E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: D829E

Domain	Start	End	E-Value	Type
low complexity region	119	132	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	224	246	N/A	INTRINSIC
FN3	279	368	6.29e-8	SMART
FN3	382	463	8.31e-8	SMART
FN3	478	560	3.15e-8	SMART
FN3	575	659	4.28e-10	SMART
FN3	674	755	2.14e-10	SMART
FN3	770	849	1.98e-5	SMART
FN3	872	947	1.31e-5	SMART
FN3	961	1042	2.31e-6	SMART
FN3	1057	1137	1.2e-4	SMART
low complexity region	1165	1176	N/A	INTRINSIC
transmembrane domain	1182	1204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195008
AA Change: D829E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: D829E

Domain	Start	End	E-Value	Type
low complexity region	119	132	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	224	246	N/A	INTRINSIC
FN3	279	368	6.29e-8	SMART
FN3	382	463	8.31e-8	SMART
FN3	478	560	3.15e-8	SMART
FN3	575	659	4.28e-10	SMART
FN3	674	755	2.14e-10	SMART
FN3	770	849	1.98e-5	SMART
FN3	872	947	1.31e-5	SMART
FN3	961	1042	2.31e-6	SMART
FN3	1057	1137	1.2e-4	SMART
low complexity region	1165	1176	N/A	INTRINSIC
transmembrane domain	1182	1204	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (108/108)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,317 (GRCm39)	V184A	probably benign	Het
Aars2	A	G	17: 45,827,497 (GRCm39)	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,738,033 (GRCm39)	C136Y	probably damaging	Het
Aldh1l1	A	G	6: 90,547,782 (GRCm39)	K414R	probably benign	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,436,221 (GRCm39)	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,215,538 (GRCm39)	Q66L	probably damaging	Het
Atp7b	A	T	8: 22,487,351 (GRCm39)	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,209,959 (GRCm39)	M437K	probably damaging	Het
Bap1	C	A	14: 30,976,126 (GRCm39)	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,414,403 (GRCm39)	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Btrc	A	G	19: 45,501,967 (GRCm39)		probably null	Het
C130050O18Rik	A	C	5: 139,400,129 (GRCm39)	I61L	probably benign	Het
Cfap161	A	G	7: 83,425,258 (GRCm39)	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,631,815 (GRCm39)	D512G	possibly damaging	Het
Chat	T	C	14: 32,141,014 (GRCm39)	D461G	probably damaging	Het
Chl1	T	A	6: 103,668,635 (GRCm39)	V456D	probably benign	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Cubn	T	G	2: 13,355,814 (GRCm39)	H1806P	probably benign	Het
Dapk1	T	A	13: 60,844,149 (GRCm39)	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,803,756 (GRCm39)	N1032D	probably benign	Het
Dlg5	T	A	14: 24,188,723 (GRCm39)	E1756V	probably damaging	Het
Dnah1	T	C	14: 30,996,339 (GRCm39)	T2666A	probably benign	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,150,528 (GRCm39)	E745V	probably benign	Het
Dock8	A	T	19: 25,158,927 (GRCm39)	N1695I	probably damaging	Het
Esf1	C	T	2: 140,006,139 (GRCm39)	R336Q	possibly damaging	Het
Fam161a	A	G	11: 22,971,664 (GRCm39)		probably null	Het
Fam89a	T	C	8: 125,478,418 (GRCm39)	E44G	possibly damaging	Het
Fxr1	C	T	3: 34,100,689 (GRCm39)	T125I	possibly damaging	Het
Gfer	T	C	17: 24,914,836 (GRCm39)	D69G	probably damaging	Het
Gpatch2l	T	A	12: 86,335,711 (GRCm39)	S471T	probably benign	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gsn	A	G	2: 35,188,807 (GRCm39)	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234 (GRCm39)	L46F	possibly damaging	Het
Hao2	A	C	3: 98,784,598 (GRCm39)		probably null	Het
Ifitm10	T	C	7: 141,882,305 (GRCm39)	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,363,794 (GRCm39)	W76L	probably benign	Het
Igsf21	A	T	4: 139,834,648 (GRCm39)	F75I	possibly damaging	Het
Ints14	T	A	9: 64,871,701 (GRCm39)	M13K	probably damaging	Het
Ipmk	A	T	10: 71,199,298 (GRCm39)	D53V	possibly damaging	Het
Iqcn	A	T	8: 71,169,597 (GRCm39)	E1229V	probably benign	Het
Itga8	A	G	2: 12,234,906 (GRCm39)	F451L	possibly damaging	Het
Jup	A	G	11: 100,272,560 (GRCm39)	F284S	probably damaging	Het
Kctd5	T	C	17: 24,292,209 (GRCm39)	D65G	probably benign	Het
Klrc1	A	T	6: 129,654,184 (GRCm39)	S148T	probably benign	Het
Kmt5b	A	G	19: 3,864,147 (GRCm39)	K404E	probably damaging	Het
Krt9	A	C	11: 100,081,617 (GRCm39)	M304R	probably damaging	Het
Krtap5-1	A	T	7: 141,850,299 (GRCm39)	S143T	unknown	Het
Kyat3	A	G	3: 142,426,162 (GRCm39)	N68D	probably damaging	Het
Kynu	A	G	2: 43,571,365 (GRCm39)	D427G	probably damaging	Het
Leo1	A	G	9: 75,353,278 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,501,892 (GRCm39)	D1737G	probably damaging	Het
Lpo	C	A	11: 87,700,077 (GRCm39)	L521F	possibly damaging	Het
Lrrk1	A	G	7: 65,920,573 (GRCm39)	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,220,584 (GRCm39)	L14M	probably damaging	Het
Ly75	G	A	2: 60,154,196 (GRCm39)	R1084*	probably null	Het
Mcf2l	A	G	8: 13,060,456 (GRCm39)	D764G	probably benign	Het
Mmut	A	T	17: 41,249,564 (GRCm39)	M180L	probably benign	Het
Mrgprd	A	T	7: 144,876,086 (GRCm39)	D319V	probably benign	Het
Myom3	T	C	4: 135,522,490 (GRCm39)	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,161,291 (GRCm39)	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,320,533 (GRCm39)	D868G	probably damaging	Het
Npy6r	A	G	18: 44,408,999 (GRCm39)	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,141,602 (GRCm39)	K196E	probably benign	Het
Nup88	T	C	11: 70,836,080 (GRCm39)	K532R	probably benign	Het
Or6k4	T	A	1: 173,964,680 (GRCm39)	Y123*	probably null	Het
Or8d6	T	A	9: 39,853,805 (GRCm39)	V83E	probably benign	Het
Or8g29-ps1	A	T	9: 39,200,589 (GRCm39)	I199N	unknown	Het
Pbxip1	A	T	3: 89,354,735 (GRCm39)	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,159,151 (GRCm39)	R761S	possibly damaging	Het
Phf10	A	T	17: 15,166,575 (GRCm39)	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,259,522 (GRCm39)	D1271G	probably damaging	Het
Plin1	A	T	7: 79,373,192 (GRCm39)	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,414,379 (GRCm39)	Q132L	unknown	Het
Ppa2	A	T	3: 133,036,199 (GRCm39)	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,387,959 (GRCm39)	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,282,684 (GRCm39)	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,758,172 (GRCm39)	V179D	probably damaging	Het
Prr14l	A	G	5: 32,984,489 (GRCm39)	F1669L	probably benign	Het
Prrg4	T	A	2: 104,669,787 (GRCm39)	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,866,187 (GRCm39)	H495Q	unknown	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rpe65	A	G	3: 159,328,491 (GRCm39)	Y433C	probably damaging	Het
Rpl35rt	A	T	1: 156,193,657 (GRCm39)	I4F	probably damaging	Het
Rtn4rl1	C	T	11: 75,156,576 (GRCm39)	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,578,663 (GRCm39)	D1446G	probably benign	Het
Sdk1	C	A	5: 142,031,931 (GRCm39)	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,036,422 (GRCm39)	S409P	probably benign	Het
Sowahc	A	G	10: 59,058,100 (GRCm39)	T79A	probably benign	Het
Spata31h1	G	A	10: 82,129,248 (GRCm39)	T1254I	probably benign	Het
Stk35	T	A	2: 129,643,513 (GRCm39)	C166S	probably benign	Het
Tarbp2	A	G	15: 102,430,922 (GRCm39)	H225R	probably benign	Het
Tdrd12	T	A	7: 35,188,648 (GRCm39)	K530*	probably null	Het
Terf2ip	A	G	8: 112,744,618 (GRCm39)	I312V	probably benign	Het
Tgfb1	T	C	7: 25,391,964 (GRCm39)		probably null	Het
Thbs2	T	C	17: 14,891,720 (GRCm39)	D939G	probably damaging	Het
Ube4b	A	T	4: 149,483,067 (GRCm39)	I67K	probably benign	Het
Ubn1	G	T	16: 4,895,080 (GRCm39)	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,276,258 (GRCm39)	K339E	possibly damaging	Het
Vax2	T	C	6: 83,714,882 (GRCm39)	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,683,038 (GRCm39)	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,661,577 (GRCm39)	K441R	probably benign	Het
Wapl	C	A	14: 34,458,648 (GRCm39)	D903E	probably benign	Het
Wee1	T	A	7: 109,734,001 (GRCm39)	V442D	probably benign	Het
Zan	T	C	5: 137,432,358 (GRCm39)	N2313S	unknown	Het

Other mutations in Fndc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Fndc3b	APN	3	27,592,161 (GRCm39)	missense	probably benign	0.40
IGL00848:Fndc3b	APN	3	27,505,658 (GRCm39)	missense	probably damaging	1.00
IGL01099:Fndc3b	APN	3	27,517,966 (GRCm39)	missense	probably benign	0.10
IGL01459:Fndc3b	APN	3	27,515,889 (GRCm39)	missense	probably benign	0.11
IGL01583:Fndc3b	APN	3	27,483,144 (GRCm39)	missense	probably damaging	1.00
IGL01736:Fndc3b	APN	3	27,521,552 (GRCm39)	missense	probably damaging	1.00
IGL02154:Fndc3b	APN	3	27,592,266 (GRCm39)	missense	probably damaging	0.99
IGL02377:Fndc3b	APN	3	27,674,801 (GRCm39)	missense	probably damaging	1.00
IGL02470:Fndc3b	APN	3	27,515,869 (GRCm39)	missense	probably damaging	1.00
IGL02508:Fndc3b	APN	3	27,512,900 (GRCm39)	missense	probably damaging	1.00
IGL02834:Fndc3b	APN	3	27,562,652 (GRCm39)	missense	probably damaging	1.00
IGL02974:Fndc3b	APN	3	27,542,425 (GRCm39)	missense	probably damaging	1.00
IGL02999:Fndc3b	APN	3	27,592,388 (GRCm39)	missense	probably damaging	1.00
IGL03083:Fndc3b	APN	3	27,521,576 (GRCm39)	missense	probably benign	0.10
R0040:Fndc3b	UTSW	3	27,610,266 (GRCm39)	splice site	probably null
R0040:Fndc3b	UTSW	3	27,610,266 (GRCm39)	splice site	probably null
R0101:Fndc3b	UTSW	3	27,512,957 (GRCm39)	missense	probably damaging	1.00
R0279:Fndc3b	UTSW	3	27,511,155 (GRCm39)	missense	probably benign	0.30
R0281:Fndc3b	UTSW	3	27,511,155 (GRCm39)	missense	probably benign	0.30
R0325:Fndc3b	UTSW	3	27,521,579 (GRCm39)	missense	probably damaging	1.00
R0398:Fndc3b	UTSW	3	27,515,928 (GRCm39)	missense	probably benign	0.19
R1334:Fndc3b	UTSW	3	27,513,000 (GRCm39)	missense	probably damaging	1.00
R1464:Fndc3b	UTSW	3	27,494,334 (GRCm39)	splice site	probably benign
R1961:Fndc3b	UTSW	3	27,510,600 (GRCm39)	nonsense	probably null
R1993:Fndc3b	UTSW	3	27,473,549 (GRCm39)	missense	probably benign
R2087:Fndc3b	UTSW	3	27,505,703 (GRCm39)	missense	probably benign	0.00
R2113:Fndc3b	UTSW	3	27,697,185 (GRCm39)	missense	probably damaging	1.00
R2258:Fndc3b	UTSW	3	27,494,309 (GRCm39)	missense	possibly damaging	0.93
R2437:Fndc3b	UTSW	3	27,505,481 (GRCm39)	missense	probably damaging	0.99
R2930:Fndc3b	UTSW	3	27,524,435 (GRCm39)	missense	probably benign
R2997:Fndc3b	UTSW	3	27,523,021 (GRCm39)	missense	probably benign	0.00
R3151:Fndc3b	UTSW	3	27,473,652 (GRCm39)	missense	possibly damaging	0.93
R3782:Fndc3b	UTSW	3	27,514,135 (GRCm39)	missense	possibly damaging	0.81
R4255:Fndc3b	UTSW	3	27,555,556 (GRCm39)	missense	possibly damaging	0.77
R4628:Fndc3b	UTSW	3	27,610,277 (GRCm39)	missense	probably benign	0.19
R4747:Fndc3b	UTSW	3	27,483,114 (GRCm39)	missense	probably damaging	0.98
R4849:Fndc3b	UTSW	3	27,514,097 (GRCm39)	missense	probably damaging	1.00
R5185:Fndc3b	UTSW	3	27,511,219 (GRCm39)	missense	probably benign	0.14
R5291:Fndc3b	UTSW	3	27,697,144 (GRCm39)	missense	probably benign	0.39
R5392:Fndc3b	UTSW	3	27,519,936 (GRCm39)	nonsense	probably null
R5540:Fndc3b	UTSW	3	27,555,651 (GRCm39)	missense	probably damaging	1.00
R5554:Fndc3b	UTSW	3	27,697,162 (GRCm39)	missense	possibly damaging	0.69
R5635:Fndc3b	UTSW	3	27,596,080 (GRCm39)	missense	probably damaging	1.00
R5639:Fndc3b	UTSW	3	27,480,302 (GRCm39)	missense	probably damaging	0.98
R5678:Fndc3b	UTSW	3	27,483,172 (GRCm39)	missense	probably benign
R5732:Fndc3b	UTSW	3	27,515,922 (GRCm39)	missense	probably damaging	1.00
R5880:Fndc3b	UTSW	3	27,483,052 (GRCm39)	missense	probably damaging	1.00
R6539:Fndc3b	UTSW	3	27,592,206 (GRCm39)	missense	probably benign	0.22
R7038:Fndc3b	UTSW	3	27,555,618 (GRCm39)	missense	probably benign	0.23
R7102:Fndc3b	UTSW	3	27,524,383 (GRCm39)	missense	possibly damaging	0.73
R7472:Fndc3b	UTSW	3	27,515,893 (GRCm39)	missense	probably benign	0.00
R7796:Fndc3b	UTSW	3	27,515,892 (GRCm39)	missense	probably benign	0.00
R7861:Fndc3b	UTSW	3	27,523,148 (GRCm39)	missense	possibly damaging	0.62
R8105:Fndc3b	UTSW	3	27,524,374 (GRCm39)	missense	probably benign	0.01
R8119:Fndc3b	UTSW	3	27,505,493 (GRCm39)	missense	probably benign	0.01
R8348:Fndc3b	UTSW	3	27,494,144 (GRCm39)	missense	probably benign
R8677:Fndc3b	UTSW	3	27,511,176 (GRCm39)	missense	probably benign	0.32
R8929:Fndc3b	UTSW	3	27,596,253 (GRCm39)	missense	probably damaging	1.00
R8943:Fndc3b	UTSW	3	27,555,329 (GRCm39)	intron	probably benign
R9102:Fndc3b	UTSW	3	27,523,014 (GRCm39)	critical splice donor site	probably null
R9211:Fndc3b	UTSW	3	27,523,086 (GRCm39)	missense	probably damaging	1.00
R9224:Fndc3b	UTSW	3	27,524,450 (GRCm39)	missense	possibly damaging	0.47
R9225:Fndc3b	UTSW	3	27,510,680 (GRCm39)	nonsense	probably null
R9358:Fndc3b	UTSW	3	27,505,556 (GRCm39)	missense	possibly damaging	0.79
R9600:Fndc3b	UTSW	3	27,552,941 (GRCm39)	missense	probably damaging	1.00
X0028:Fndc3b	UTSW	3	27,505,583 (GRCm39)	missense	possibly damaging	0.72
Z1088:Fndc3b	UTSW	3	27,519,957 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCAAGGAGTTACGTATGTGTGC -3'
(R):5'- CCCTTTGACGATCGATTGCATC -3'

Sequencing Primer
(F):5'- TATGTGTAGGACCCAGGTCAACATC -3'
(R):5'- GACGATCGATTGCATCATTTCCAG -3'

Posted On

2019-06-26